V10M (p.Val10Met) variant of CBS (Cystathionine beta-synthase)
V10M (p.Val10Met) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
V10M (p.Val10Met) variant details
- p.Val10Met
- gnomAD rs1479837105
- Uncertain significance
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Classic homocystinuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS high-B6: score 0.906